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ARG1 arginase 1 [ Homo sapiens (human) ]

Gene ID: 383, updated on 7-Apr-2024

Summary

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Official Symbol
ARG1provided by HGNC
Official Full Name
arginase 1provided by HGNC
Primary source
HGNC:HGNC:663
See related
Ensembl:ENSG00000118520 MIM:608313; AllianceGenome:HGNC:663
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Expression
Biased expression in liver (RPKM 237.4), bone marrow (RPKM 81.9) and 1 other tissue See more
Orthologs
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Genomic context

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Location:
6q23.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (131573226..131584329)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (132767703..132778804)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (131894366..131905469)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378005 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:131677980-131679179 Neighboring gene ribosomal protein L21 pseudogene 67 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:131825416-131826081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:131852503-131853004 Neighboring gene NANOG hESC enhancer GRCh37_chr6:131893832-131894333 Neighboring gene mediator complex subunit 23 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17546 Neighboring gene RNA, U4 small nuclear 18, pseudogene Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:132021641-132022226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:132022227-132022812 Neighboring gene olfactory receptor family 2 subfamily A member 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Arginase-1+ bone marrow myeloid cells are reduced in myeloproliferative neoplasms and correlate with clinical phenotype, fibrosis, and molecular driver. Bonometti A, et al. Cancer Med, 2023 Apr. PMID 36524315, Free PMC Article
  2. Pathophysiological correlation of arginase-1 in development of type 2 diabetes from obesity in adolescents. Mazrouei S, et al. Biochim Biophys Acta Gen Subj, 2023 Feb. PMID 36309295
  3. Epithelial arginase-1 is a key mediator of age-associated delayed healing in vaginal injury. Wilkinson HN, et al. Front Endocrinol (Lausanne), 2022. PMID 36034415, Free PMC Article
  4. Identification of a novel homozygous intron 3 splice site (A>T) mutation in the ARG1 gene in cerebral palsy pediatric cases from Odisha, India. Behera CK, et al. Mol Biol Rep, 2022 May. PMID 35505270
  5. Common variants in AGR1 genes contributed to the risk and traits of cirrhotic cardiomyopathy in the Han Chinese population. Yu S, et al. Biomark Med, 2022 Apr. PMID 35234520

See all (248) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Arginase-induced cell death pathways and metabolic changes in cancer cells are not altered by insulin.
    Title: Arginase-induced cell death pathways and metabolic changes in cancer cells are not altered by insulin.
  2. DDR2-regulated arginase activity in ovarian cancer-associated fibroblasts promotes collagen production and tumor progression.
    Title: DDR2-regulated arginase activity in ovarian cancer-associated fibroblasts promotes collagen production and tumor progression.
  3. Arginase-1 promotes lens epithelial-to-mesenchymal transition in different models of anterior subcapsular cataract.
    Title: Arginase-1 promotes lens epithelial-to-mesenchymal transition in different models of anterior subcapsular cataract.
  4. Arginase 1 is a key driver of immune suppression in pancreatic cancer.
    Title: Arginase 1 is a key driver of immune suppression in pancreatic cancer.
  5. Arginase-1+ bone marrow myeloid cells are reduced in myeloproliferative neoplasms and correlate with clinical phenotype, fibrosis, and molecular driver.
    Title: Arginase-1+ bone marrow myeloid cells are reduced in myeloproliferative neoplasms and correlate with clinical phenotype, fibrosis, and molecular driver.
  6. Pathophysiological correlation of arginase-1 in development of type 2 diabetes from obesity in adolescents.
    Title: Pathophysiological correlation of arginase-1 in development of type 2 diabetes from obesity in adolescents.
  7. Expression of Inhibitory Molecules (Arginase-1, IDO, and PD-L1) by Myeloid-Derived Suppressor Cells in Multiple Myeloma Patients in Remission.
    Title: Expression of Inhibitory Molecules (Arginase-1, IDO, and PD-L1) by Myeloid-Derived Suppressor Cells in Multiple Myeloma Patients in Remission.
  8. Annexin A2/TLR2/MYD88 pathway induces arginase 1 expression in tumor-associated neutrophils.
    Title: Annexin A2/TLR2/MYD88 pathway induces arginase 1 expression in tumor-associated neutrophils.
  9. ARG1 and CXCL2 are potential biomarkers target for psoriasis patients.
    Title: ARG1 and CXCL2 are potential biomarkers target for psoriasis patients.
  10. Epithelial arginase-1 is a key mediator of age-associated delayed healing in vaginal injury.
    Title: Epithelial arginase-1 is a key mediator of age-associated delayed healing in vaginal injury.
Submit: New GeneRIF Correction See all GeneRIFs (168)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Arginase deficiency
MedGen: C0268548 OMIM: 207800 GeneReviews: Arginase Deficiency, Urea Cycle Disorders Overview
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EBI GWAS Catalog

Description
A genome-wide association study on obesity and obesity-related traits.
EBI GWAS Catalog
New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables arginase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables manganese ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in arginine catabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in arginine catabolic process to ornithine IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in defense response to protozoan IEA
Inferred from Electronic Annotation
more info
  
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of T cell proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of T-helper 2 cell cytokine production IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of activated T cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of type II interferon-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of neutrophil mediated killing of fungus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in urea cycle IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in azurophil granule lumen TAS
Traceable Author Statement
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus HDA PubMed 
located_in specific granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
arginase-1
Names
arginase, liver
liver-type arginase
type I arginase
NP_000036.2
NP_001231367.1
NP_001355949.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007086.2 RefSeqGene

    Range
    5002..16105
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000045.4 → NP_000036.2  arginase-1 isoform 2

    See identical proteins and their annotated locations for NP_000036.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    BC020653, BG542163
    Consensus CDS
    CCDS5145.1
    UniProtKB/Swiss-Prot
    A6NEA0, P05089, Q5JWT5, Q5JWT6, Q8TE72, Q9BS50
    UniProtKB/TrEMBL
    A0A5F9ZGN6
    Related
    ENSP00000357066.3, ENST00000368087.8
    Conserved Domains (1) summary
    cd11587
    Location:9 → 303
    Arginase-like; Arginase types I and II and arginase-like family

  2. NM_001244438.2 → NP_001231367.1  arginase-1 isoform 1

    See identical proteins and their annotated locations for NP_001231367.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as erythroid variant) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AY074488, BC020653
    Consensus CDS
    CCDS59038.1
    UniProtKB/TrEMBL
    A0A5F9ZGN6
    Related
    ENSP00000349446.2, ENST00000356962.2
    Conserved Domains (1) summary
    cd11587
    Location:9 → 311
    Arginase-like; Arginase types I and II and arginase-like family

  3. NM_001369020.1 → NP_001355949.1  arginase-1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL121575
    Consensus CDS
    CCDS94002.1
    UniProtKB/TrEMBL
    A0A5F9ZH78
    Related
    ENSP00000500160.1, ENST00000673427.1
    Conserved Domains (1) summary
    cl17011
    Location:9 → 218
    Arginase_HDAC; Arginase-like and histone-like hydrolases

RNA

  1. NR_160934.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL121575

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    131573226..131584329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    132767703..132778804
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P05089.2 GenPept UniProtKB/Swiss-Prot:P05089

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